research EFFECT OF ANTIANDROGENS ON VALPROIC ACID-INDUCED NEURODEVELOPMENTAL CHANGES IN RATS
Antiandrogens help improve developmental delays caused by valproic acid in rats.
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research Dermatologic diseases and pregnancy
Pregnancy can cause normal skin changes, including darkening of certain areas, nail changes, vascular changes, and breast changes like stretch marks.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Androgenetic alopecia risk IDed with genetic test
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Prostate Cancer Early Detection, Version 2.2015
The guidelines aim to find treatable prostate cancer early while avoiding unnecessary tests and treatments.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Modern approaches to the diagnosis and treatment of polycystic ovary syndrome in adolescence
New methods for identifying and managing polycystic ovary syndrome in teenagers are improving.
research Hyperpigmentation and Melasma
Hyperpigmentation is common in pregnancy and may not fully fade after birth; melasma, also frequent, can persist but has limited treatment options during pregnancy.
research A Comprehensive Approach in Diagnosing the Polycystic Ovary Syndrome
The document concludes that diagnosing PCOS requires a thorough approach, considering various symptoms and risks, and calls for improved methods to identify PCOS types and prevent diabetes.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research The impact of 1-hour plasma glucose on the metabolic characteristics and pregnancy outcomes in polycystic ovary syndrome
High 1-hour plasma glucose in PCOS increases risks of metabolic issues and gestational diabetes.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Cushings syndrome complicating pemphigoid gestationis
Careful management of steroid use is crucial in pregnant women with bullous pemphigoid to avoid complications like Cushing syndrome.
research Polycystic ovary syndrome: a review of cases from general practice
Most women with polycystic ovary syndrome were first diagnosed by their family doctor, who may need to record symptoms better and rely less on ultrasounds.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Ultrahigh-Power Sonicator Lysis Enables Deep ProteomicProfiling of Hair Shafts for Fetal Growth Restriction Biomarker Discovery
A new method helps find proteins in hair to identify fetal growth issues.
research The Skin in Pregnancy
Pregnancy can cause normal skin changes that usually go away after childbirth and don't need treatment.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Neonatal neurosteroid levels are determinant in shaping adult prepulse inhibition response to hippocampal allopregnanolone in rats
Neonatal neurosteroid levels affect adult brain function and behavior.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.
research SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
research 353 Alopecia as a Symptom of Neonatal Lupus
Alopecia can be a symptom of Neonatal Lupus.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.